Canonical Allele Identifier: CA1329211307

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421470T= , CM000664.2:g.219421470T=	GRCh38
NC_000002.11:g.220286192T= , CM000664.1:g.220286192T=	GRCh37
NC_000002.10:g.219994436T=	NCBI36
NG_008043.1:g.8094T= , LRG_380:g.8094T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1154T= MANE Select	NP_001918.3:p.Leu385=
ENST00000373960.4:c.1154T= MANE Select	ENSP00000363071.3:p.Leu385=
NM_001382708.1:c.1151T=	NP_001369637.1:p.Leu384=
NM_001382709.1:c.736-14T=	NP_001369638.1:n.736-14T=
NM_001382710.1:c.1085T=	NP_001369639.1:p.Leu362=
NM_001382711.1:c.1133T=	NP_001369640.1:p.Leu378=
NM_001382712.1:c.1154T=	NP_001369641.1:p.Leu385=
NM_001382713.1:c.884T=	NP_001369642.1:p.Leu295=
NM_001927.3:c.1154T= , LRG_380t1:c.1154T=	NP_001918.3:p.Leu385=
ENST00000373960.3:c.1154T=	ENSP00000363071.3:p.Leu385=
ENST00000477226.5:n.626T=
ENST00000477226.6:n.628T=
ENST00000492726.1:n.549T=
ENST00000683013.1:n.542T=